Linked Data
dbSNP Id:
rs1434953552
gnomAD v3:
10-113588128-A-AC
gnomAD v4:
10-113588128-A-AC
MyVariant Identifiers:
chr10:g.115347887_115347888insC (hg19)
chr10:g.113588128_113588129insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588133dup , CM000672.2:g.113588133dup | GRCh38 |
| NC_000010.10:g.115347892dup , CM000672.1:g.115347892dup | GRCh37 |
| NC_000010.9:g.115337882dup | NCBI36 |
| NG_008956.1:g.40115dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1519-72dup MANE Select | ENSP00000277903.4:n.1519-72dup | |
| ENST00000351270.3:c.1519-72dup | ENSP00000277903.4:n.1519-72dup | |
| ENST00000542051.5:c.1441-72dup | ENSP00000443283.1:n.1441-72dup | |
| NM_001177660.1:c.1441-72dup | NP_001171131.1:n.1441-72dup | |
| NM_004132.3:c.1519-72dup | NP_004123.1:n.1519-72dup | |
| NM_001177660.2:c.1441-72dup | NP_001171131.1:n.1441-72dup | |
| NM_004132.4:c.1519-72dup | NP_004123.1:n.1519-72dup | |
| NM_004132.5:c.1519-72dup MANE Select | NP_004123.1:n.1519-72dup | |
| NM_001177660.3:c.1441-72dup | NP_001171131.1:n.1441-72dup |